Inborn disorder of bilirubin metabolism

This study tests whether giving extremely preterm babies less intravenous (IV) fat (lipids) can lower harmful bilirubin levels and protect their brain development. Bilirubin can build up in these tiny infants and cause hearing loss or long-term disabilities. Researchers will comp…

This study tests new vitamin and mineral supplements called EasiVits for children aged 1-16 with inborn errors of metabolism (IEM). These supplements have less carbohydrate and no flavor, so they can be used with different diets and kids can add their own taste. The goal is to se…

This study looks at a rare liver disease called PFIC, which causes severe itching and liver damage. Researchers compare patients who took the drug odevixibat to those who did not, using data from past studies and a patient registry. The goal is to see if odevixibat helps avoid li…

This study followed children and young adults with genetic liver diseases that cause bile buildup. The goal was to track how these diseases progress over time, including the need for liver transplants or other complications. No treatments were tested; the aim was simply to learn …

This study will collect and analyze genetic data from 1000 people with suspected inherited metabolic diseases, including conditions like epilepsy and mitochondrial disorders. Researchers at Karolinska University Hospital aim to improve diagnosis by using advanced genetic testing …

This study was designed to track how COVID-19 infection might worsen the condition of people with inherited metabolic diseases (IMD). Researchers planned to collect information from French patients with IMD who had or had COVID-19 to see how often their metabolic disease got wors…

This study tests a new wireless sensor that continuously measures the light dose babies receive during phototherapy for jaundice. Currently, doctors check light levels only once a day with a handheld device, which can be inaccurate. The sensor aims to provide real-time data to en…